1. Antunes FTT, Zamponi GW. Exploring the role of Cav3.2 calcium channels in autism-like cognitive behavior induced by prenatal valproic acid exposure. Neuroscience. 2025; 577: 71-9.

Recent findings indicated that CACNA1H mutations may contribute to Autism Spectrum Disorder (ASD) by reducing Cav3.2 activity, disrupting neuronal function, and brain development. To explore how Cav3.2 deficiency affects autism-related cognition, we induced autism-like behaviors in wild-type (WT) and Cav3.2 knockout mice (KO) using the prenatal valproic acid model (pre-VPA). We analyzed how cognitive behavior (repetitive behavior, spatial working memory, sociability, social preference, and anxiety) in this model is differentially impacted in WT and Cav3.2 KO mice of different sexes and ages. In WT mice, pre-VPA increased repetitive behavior and self-grooming (>75 %). In contrast, there was no pre-VPA-induced increase in repetitive behavior in Cav3.2 KO male mice, and there was a reduction in self-grooming in adult KO females (∼40 %). While pre-VPA impaired spatial working memory in wild-type adult mice of both sexes, Cav3.2 KO mice were protected. Pre-VPA also induced sociability and social preference deficits in WT mice of both sexes. Deletion of Cav3.2 rescued sociability deficits in juvenile and adult male but not female mice. In addition, Cav3.2 channels appeared to contribute to social preference impairment in juvenile male KO mice and both sexes in adulthood. Additionally, KO mice exposed to pre-VPA exhibited lower anxiety levels in the elevated plus maze test when compared to KO controls. Together, our results provide new insights into the role of Cav3.2 channels in ASD-related behavior and suggest that these channels contribute to a range of behavioral deficits.

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2. Baumbusch J, Lloyd JE, Fong VC. Population-level gender-based analysis of the educational journeys of students with autism spectrum disorder in British Columbia, Canada. Autism. 2025: 13623613251345532.

Research examining the impact of gender on educational outcomes in autistic students has been sparse. To address this gap, this study investigated the educational journeys of students with autism spectrum disorder in British Columbia, Canada. We examined (1) the time it takes for students to receive an initial autism spectrum disorder designation; and the frequency and percentage of students who (2) stay longitudinally in the Kindergarten-to-Grade 12 school system; (3) complete high school and the credential earned; and (4) proceed to public post-secondary education within British Columbia. We conducted secondary analyses of administrative data. The autism spectrum disorder student population was divided into eight longitudinal cohorts with a combined final sample size of 4282 students with autism spectrum disorder: 738 female (17.2%) and 3544 (82.8%) male. Descriptive analyses indicated statistically significant gender differences in students’ time to initial autism spectrum disorder designation, rates of high school completion and the specific high school credential earned. No gender differences were found in post-secondary transition rates. During their formative education years, gender differences, particularly the delay in autism spectrum disorder diagnosis among girls, may have implications with respect to educational outcomes. Results emphasize the need to provide educators with greater information about recognizing gender differences in autism spectrum disorder.Lay Abstracta. What is already known about the topic?Over the past several years, there is growing acknowledgement of gender inequities among people with autism spectrum disorder. The inequity is evidenced, in part, by gender differences in diagnosis. Although the gender gap is narrowing, until recently the diagnostic criteria for autism spectrum disorder has largely favoured and is more sensitive to detecting autism spectrum disorder in boys.b. What does this paper add?Research examining the impact of gender on educational outcomes in autistic students has been sparse. To address this gap in the literature, the current study investigated the educational journeys of students with autism spectrum disorder in British Columbia, Canada.We found statistically significant gender differences in students’ time to initial autism spectrum disorder designation, rates of high school completion and the specific high school credential earned. There were, however, no significant differences in whether or not students stayed longitudinally in the K-12 school system over time, whether students transitioned into post-secondary or not (non-developmental or developmental), nor in students’ transition times into the respective post-secondary education programmes.This study highlights the value of longitudinal, population-based and student-level data in conducting gender-based analyses in autism spectrum disorder research.c. Implications for practice, research or policyUnderstanding how gender impacts the academic trajectories of students with autism spectrum disorder over time can inform the development of tailored interventions and services which address their unique needs. Ultimately, this research is needed to promote more equitable educational experiences and outcomes.

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3. Bierlich AM, Scheel NT, Koehler JC, Bloch C, Plank IS, Falter-Wagner CM. Attenuated behavioral interpersonal synchrony in autistic adults is not explained by perception of timing. Sci Rep. 2025; 15(1): 20157.

Attenuated interpersonal synchrony (IPS) has been shown between autistic individuals and their interaction partners; however, the mechanisms of this attenuation remain unclear. One possibility could lie in perceiving the timing of others’ behaviors. The present study aimed to relate the behavioral production of IPS with the perception of temporal dynamics of social interactions and event timing perception in autistic and non-autistic adults. Autistic and non-autistic participants engaged in naturalistic conversations with a non-autistic stranger, who was naïve to the participant’s diagnostic status. Behavioral IPS was computed using automatic video-based analysis. Participants reported their experiences of perceived IPS with the partner, as a measure of the perceived temporal dynamics of the social interaction. A perceptual simultaneity task measured the perception of event timing in a nonsocial context. Bayesian linear mixed models were used to evaluate the effects of perceived IPS ratings and simultaneity thresholds on behavioral IPS. Expectedly, behavioral IPS was reduced for dyads including an autistic adult. Neither perceived IPS ratings, nor simultaneity thresholds, were associated with reduced behavioral IPS for dyads with or without an autistic adult. These findings hint that attenuated behavioral IPS may not result from atypical perceived timing of others’ behaviors or event timing perception.

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4. Burke MM, Ramos-Torres S, Espinosa GH, Hincapie AL, Aleman-Tovar J, Perez R, Puente C. Testing an Advocacy Program to Improve Service Access Among Latino Families of Autistic Youth: A Randomized Controlled Trial. Autism Res. 2025.

Families of transition-aged youth with autism often struggle to access services. Due to systemic barriers, Latino, Spanish-speaking families of autistic youth especially struggle to access services. One way to improve service access is through parent advocacy abilities (i.e., knowledge of adult services, advocacy abilities and comfort, empowerment). To improve parent advocacy abilities and, ultimately, service access, we conducted a randomized controlled trial to test the feasibility and efficacy of an advocacy program: ASISTIR (Apoyando a nueStros hIjo/as con autiSmo obTener servIcios de tRansición; Supporting our Children with Autism to Obtain Transition Services). Of the 30 participants who were retained for analyses, intervention (vs. waitlist-control) group participants demonstrated significant increases in knowledge about adult services, advocacy activities, advocacy skills and comfort, and empowerment. Further, intervention (vs. waitlist-control) group participants demonstrated significantly greater service access. Implications for research and practice are discussed. Trial Registration: clinicaltrials.gov: NCT06207149.

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5. Chan KKS, Tsui JKC. Effectiveness of mindfulness-based intervention in reducing stigma stress among parents of autistic children: A randomized controlled trial. Res Dev Disabil. 2025; 164: 105072.

BACKGROUND: Despite the adverse psychological effects of stigma stress on parents of autistic children, no evidence-based intervention currently exists to address this issue. While targeted interventions for stigma stress are lacking, evidence from broader literature suggests that mindfulness can be an effective skill for coping with stigma. This study developed, implemented, and evaluated a new Mindfulness-Based Stigma Stress Reduction (MBSSR) program for parents of autistic children in Hong Kong. METHODS: Participants were randomly assigned to either the MBSSR intervention group (n = 25) or a waitlist control group (n = 26). Both groups completed questionnaire measures at baseline (T1), immediately after the intervention (T2), and one month post-intervention (T3). RESULTS: Compared to the control group, the intervention group showed greater reductions in stigma stress and greater improvements in psychological well-being, positive caregiving experiences (including increased perceptions of caregiving gain and reduced perceptions of caregiving burden), mindful parenting, and decreased autistic symptoms in their children. The effect sizes of these changes ranged from modest to large, with all benefits being statistically significant at the 4-week follow-up. CONCLUSION: Our findings indicate that the MBSSR program effectively supports parents in coping with stigma and yields a wide range of benefits, simultaneously improving their mental health, caregiving perceptions, interpersonal mindfulness in parenting, and child clinical outcomes. Given these benefits, practitioners should consider integrating mindfulness training-such as the MBSSR program-into support services for families of autistic children.

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6. Chow T, Meng Q, Xiao J, O’Sharkey K, Liew Z, Ritz B. Age, Race, and Ethnicity of Maternal Grandparents in Autism Spectrum Disorder, a California Multigenerational Study. Autism Res. 2025.

We investigated associations between maternal grandparents’ age and autism spectrum disorders (ASD) in grandchildren, exploring differences by race/ethnicity. In a multigenerational California birth cohort study including 1,743,998 and 1,630,722 mother-child pairs (with 27,975 and 25,816 ASD cases, respectively), we examined ASD risk by grandmother’s and grandfather’s age at the time when their daughter was born. Logistic regression was used to obtain odds ratios (ORs) and 95% CIs. The odds of ASD in grandchildren were higher among White grandmothers (OR, 1.14; 95% CI, 1.08-1.20) and grandfathers (OR, 1.18; 95% CI, 1.11-1.25) who had daughters at younger ages (18-24 years) compared to the 25-29 year reference, while inverse associations were observed for younger Black grandmothers (OR, 0.85; 95% CI, 0.78-0.94). At older ages (35-55 years), ASD risks were higher among Hispanic grandmothers (OR, 1.13; 95% CI, 1.06-1.21) and Hispanic (OR, 1.12; 95% CI, 1.06-1.18) and Black grandfathers (OR, 1.18; 95% CI, 1.05-1.32). The risk of ASD in grandchildren was higher among older grandparents of several races/ethnicities but among the youngest grandparents only among those of White race. Differences by race/ethnicity may imply different mechanisms operating in younger and older grandparents. Studies exploring the contributions of biological as well as social, occupational, and environmental factors on the influence of age at pregnancy with ASD are needed.

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7. Dennehy A, Mackenzie L, Dickson C, Bulkeley K, Alvarez-Campos A, Lovarini M. The Reliability of a Video Analysis Tool to Evaluate Outcomes for Animal Assisted Therapy Involving Dogs in Children and Young People with Autism. Phys Occup Ther Pediatr. 2025: 1-17.

AIMS: To determine inter-rater and test-retest reliability of a video analysis tool (VAT-AAT) for evaluating changes in frequency and duration of verbal social behaviors, non-verbal social behaviors, play behaviors, and negative behaviors of children and young people aged 3-25 years with autism during animal-assisted therapy (AAT). METHODS: Following recruitment and training, 23 occupational therapy students from an Australian metropolitan university rated a simple or complex video-recorded AAT session on two occasions. Expert raters determined acceptable score ranges which were compared with collected data from the raters to determine intraclass correlation coefficients (ICC). RESULTS: ICCs were 0.84 (simple session) and 0.89 (complex session) for inter-rater reliability and 0.84 (simple session) and 0.89 (complex session) for test-retest reliability. The percentage agreement was similar across level of session complexity and rater experience with children and autism but was lower for participants with less experience with animals (<10% difference in percentage agreement). CONCLUSIONS: The VAT-AAT has good inter-rater and test-retest reliability when used in AAT with children and young people with autism. Session complexity or rater experience with children or autism did not impact on the level of agreement with expert raters. Validity of the tool now needs to be established.

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8. Hashemi F, Hoepner L, Hashemi H, Hoseini M, Omeragić E, Hamidinejad FS, Haluza D, Mititelu M, Guo C. Prenatal exposure to benzene, toluene, ethylbenzene, and xylene (BTEX) and the risk of autism spectrum disorders in children aged 16-37 months: A prospective cohort study. Environ Pollut. 2025; 382: 126700.

Autism spectrum disorder (ASD) as a neurological disorder can result from the interaction of genetic and environmental factors such as air pollution and exposure to chemical pollutants. This study tested the hypothesis that living in areas near petrochemical industries and exposure to benzene, toluene, ethylbenzene, and xylene (BTEX) may adversely affect maternal and fetal health and increase the risk of autism. We conducted a prospective cohort study from 2019 to 2024, following 110 pregnant women divided into exposure and control groups, along with 145 children born during the study [exposure group (n = 80) and control group (n = 65)]. Prenatal urinary BTEX concentrations were measured using gas chromatography-mass spectrometry (GC/MS). The MCHAT-R/F screening tool was used to track the child’s behavior in terms of the occurrence of autism spectrum symptoms. The results showed that the mean concentration of prenatal BTEX urine concentration in the exposed group (557 ng/l) was significantly higher than that in the control group (258 ng/l). The M-CHAT-R/F screening indicated moderate ASD risk in six exposure group children and three control group children; and high ASD risk for four exposure group children and one control group child. The findings in the exposure group revealed a higher incidence of ASD among boys compared to girls (4:2 in medium risk and 3:1 in high risk). Multivariate logistic regression analysis indicated that the prevalence of autism in the exposed group was significantly associated with exposure to benzene (OR, 2.10; 95%CI, 1.93-2.17; P(value)<0.05) and toluene (OR, 1.7; 95%CI, 1.62-1.81; P(value)<0.05). Living in industrial areas and perinatal exposure to BTEX compounds may increase the risk of ASD. Therefore, health impact assessment studies focusing on the health of vulnerable groups before the construction of petrochemical industries, as well as the monitoring of relevant health indices during the operational phase, should be prioritized.

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9. Jain A, Dhir N, Prabha PK, Raja A, Sharma AR, Kaundal T, Charan S, Singh H, Singla R, Malik D, Bhatia A, Banerjee D, Saikia B, Zohmangaihi D, Goyal MK, Medhi B, Prakash A. Restoring Brain Function in Autism: GSK3β Inhibition by 6-Bromoindirubin-3′-oxime Reverses Valproic Acid-induced Neuropathology. ACS Chem Neurosci. 2025.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social deficits, restricted interests, and repetitive behaviors. Although aripiprazole and risperidone are FDA-approved for ASD, they primarily target comorbid symptoms and are associated with significant side effects. This study aimed to investigate the effects of 6-bromoindirubin-3′-oxime (6BIO), a glycogen synthase kinase 3β (GSK3β) inhibitor, in a VPA model of ASD. Pregnant Wistar rat dams received a single intraperitoneal (ip) injection of VPA (600 mg/kg) or an equal volume of saline on GD 12.5. Offspring prenatally exposed to VPA showed impairments in early age observations, such as nervous reflex, motor coordination, sensory function, and developmental milestones. On postnatal day (PND), 23 male and female offspring were separated and randomly assigned to receive either risperidone (2.5 mg/kg, po) or 6BIO (15 or 30 μg/kg, ip) daily until PND 82. Systemic postnatal administration of 6BIO dose-dependently ameliorated anxiety-like behavior, exploratory, social deficit, repetitive behavior, spatial cognition, recognition memory, motor coordination, gastrointestinal motility, brain edema, and blood-brain barrier functions. Furthermore, chronic 6BIO postnatal treatment significantly attenuated VPA-induced neuronal damage in the prefrontal cortex, hippocampus, and cerebellum. 6BIO also significantly suppressed the upregulated cytosolic GSK3β phosphorylation, as determined by immunohistochemistry and Western blotting. Additionally, 6BIO modulated mRNA expression levels of Wnt, CHD8, SHANK3, GAD65, and 67, and transcriptional factors such as β-catenin and NLGN3 were altered by prenatal VPA exposure. In conclusion, these findings suggest that 6BIO may exert neuroprotective effects via GSK3β inhibition, indicating its potential as a candidate compound for therapeutic intervention in ASD.

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10. Jones DR, Yarger HA, Redcay E. The Critical Need for Research Examining Mental Health Risk and Protective Factors in Black Autistic Youth. J Am Acad Child Adolesc Psychiatry. 2025.

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11. Liu Q, Lai H, Le J, Lan C, Zhang X, Huang L, Xu D, Jiang X, Li F, Kendrick KM, Zhao W. Identifying brain functional subtypes and corresponding task performance profiles in autism spectrum disorder. Mol Psychiatry. 2025.

Refining the classification of autism spectrum disorder (ASD) subtypes is essential for advancing personalized interventions strategies, given the substantial heterogeneity in phenotypic clinical symptoms among individuals with ASD. Thus, the current study integrated normative modeling, resting-state fMRI data, clinical assessment, and eye-gaze patterns to investigate potential ASD subtypes. By incorporating both static and instant dynamic (strength and variability) functional connectivity as predictive variables within the normative models, we aimed to delineate multi-level functional developmental trajectories. Our comprehensive analysis of 1046 participants (479 with ASD, 567 typical development) identified two distinct neural ASD subtypes with unique functional brain network profiles despite comparable clinical presentations. One ASD subtype was characterized by positive deviations in the occipital network and cerebellar network, coupled with negative deviations in the frontoparietal network, default mode network, and cingulo-opercular network. Conversely, the other subtype exhibited an inverse pattern of functional deviations across these networks. Furthermore, an independent cohort of 21 ASD individuals revealed that these neural subtypes were also associated with distinct gaze patterns assessed by two autism-sensitive eye-tracking tasks focused on preference for social cues. These findings emphasize the complexity and heterogeneity of ASD, uncovering the presence of neurobehavioral subtypes that extend beyond simple neural variations and manifest in diverse functional developmental patterns and behavioral presentations. This study underscores the importance of adopting personalized intervention strategies that cater to the individual needs of each person, rather than relying on a standardized, one-size-fits-all approach, despite the presence of similar clinical symptoms.

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12. Palanivelu L, Chen YY, Liang YW, Li SJ, Chang CW, Huang YT, Lo YC. Diffusion kurtosis imaging biomarkers associated with amelioration of neuroinflammation, gray matter microstructural abnormalities, and gut dysbiosis by central thalamic deep brain stimulation in autistic -like young rats. Neuroimage. 2025; 317: 121344.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by abnormalities in brain microstructure, neuroinflammation, and social behavior deficits. In addition, children with ASD frequently exhibit irritable bowel syndrome and other gastrointestinal symptoms linked to anxiety. This study investigated if central thalamic nucleus deep brain stimulation (CTN-DBS) can improve social behavior, suppress neuroinflammation, restore brain microstructure, and reverse gut dysbiosis in the valproic acid-induced rat model of ASD by modulating the microbiota-gut-brain (MGB) axis. Daily CTN-DBS for 7 days (30 min/day) enhanced neuronal density, organization, and microstructural complexity as evidenced by increases in the diffusion kurtosis imaging (DKI) metrics-mean kurtosis (MK), axial kurtosis (AK), and radial kurtosis (RK). These neurostructural improvements were associated with reduced astrocyte and microglial activation, two core hallmarks of neuroinflammation in ASD, and lower systemic levels of the pro-inflammatory cytokines interleukin (IL)-1β, IL-6, interferon (IFN)-γ, and tumor necrosis factor (TNF)-α, signaling factors that may increase gut permeability and disrupt gut microbial composition. Indeed, CTN-DBS enhanced gut barrier function, promoted the proliferation of beneficial Bacteroides spp., and improved short-chain fatty acid (SCFA) metabolism, thereby restoring normal gut acetate and butyrate levels and counteracting dysbiosis. Specific energy absorption rate and thermal effect analyses demonstrated that CTN-DBS is safe under DKI. These findings support CTN-DBS as a safe and efficacious therapeutic strategy to reduce neuroinflammation, restore gray matter circuit function, and improve gut microbial composition in ASD via MGB axis modulation. Furthermore, DKI can reveal neurobiomarkers indicative of these improvements in ASD model rats.

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13. Sun X, Chen Y, Zhong J, Chen H, Xie J, Wang R. Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay. Neurogenetics. 2025; 26(1): 51.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and epilepsy. There is increasing evidence that genetic factors play a key role and that variations in the MARK2 gene are associated with neurodevelopmental disorders. Nevertheless, clinical reports associating MARK2 variants with human disease remain limited. Exome sequencing (ES) was performed on a patient with ASD, developmental delay, and epilepsy. Candidate variants were prioritized based on inheritance patterns, population allele frequency, and clinical relevance, following the ACMG guidelines. Sanger sequencing was used to validate the identified variant in the family. The patient is a five-year-old male who presented with ASD, epilepsy and developmental delay. The brain MRI was normal, but the EEG results showed abnormal brain activity with sharp and slow waves in the right occipital and posterior temporal regions. A frameshift variant in the MARK2 (c.645_646insA, p.(Ala216Serfs*12)) gene was identified in the patient through ES. It was de novo and confirmed by Sanger sequencing. This study contributes to the expansion of the genotypic spectrum of MARK2-related neurodevelopmental disorders. A novel de novo frameshift variant was identified in a patient with ASD, developmental delay and epilepsy. These findings provide further evidence supporting the role of MARK2 as a disease-associated gene and highlight its potential role in neurodevelopment.

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14. van der Schaaf R, Murphy VE, Harvey S, Dent P, Lane A, Whalen O. The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta-Analysis. Autism Res. 2025.

Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO. Of the 350 potential studies, 19 met the inclusion criteria (2,530,716 participants; 73,065 autistic participants). Quality was assessed with the Newcastle-Ottawa Scale. Meta-analyses using proportions and odds ratios were conducted using the Mantel-Haenszel method with a random-effects model. Compared to women without asthma, there was an increased odds of child autism with any history of maternal asthma (OR = 1.32; 95% CI = 1.21, 1.44; I(2) = 61%, n = 14), with current asthma during pregnancy (OR = 1.23; 95% CI = 1.12, 1.35; I(2) = 35%, n = 10) and with medication use during pregnancy (OR = 1.48; 95% CI = 1.30, 1.68; I(2) = 0%, n = 3). However, when women with asthma who used asthma medication were compared to those with asthma who did not use medication, there were no increased odds for child autism (OR = 1.07; 95% CI = 0.89, 1.27; I(2) = 34%, n = 2). Maternal asthma is associated with an increased odds of child autism. Future studies should consider neurodivergence in the parents, the severity of asthma, and the effectiveness of prescribed medication in managing the mother’s asthma to improve our understanding of this association. Trial Registration: PROSPERO registration: CRD42021265060.

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15. Vignoli A, Prato G, Alfei E, Bagnasco I, Danieli A, Celario M, Favaro J, Matricardi S, Operto FF, Orsini A, Bernasconi DP, Pietrafusa N, Ricci E, Manfredini L, Balletto G, Bonanni P, Canevini MP, De Giorgis V, Nobili L, Sartori S, Savini MN, Viganò I, Specchio N. Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?. Epilepsia Open. 2025.

OBJECTIVE: This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug-resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). METHODS: We recruited subjects with genetically confirmed typical RTT and CDD with drug-resistant seizures who received add-on treatment with highly purified Cannabidiol (CBD) through a national collaboration group. CBD treatment was titrated from 5 to 20 mg/kg/day; concurrent antiseizure medications (ASMs) could have been adjusted as clinically indicated. RESULTS: We enrolled 27 subjects (26 females), carrying a MECP2 genetic variant (14 subjects, 51.9%) or a CDKL5 genetic variant (13 subjects, 48.1%). Median age [IRQ] of individuals was 10.5 [7.9, 18.5] years. The median dose of CBD [IRQ] at last follow-up was 15 [11.12, 18.8] mg/kg/day, in association with a mean of 3 ASMs (range 2-4). The median duration of treatment was 14 [8.5, 20] months. Although not reaching a significant statistical effect, CBD reduced the incidence of seizures with respect to the baseline in 18/27 (66.6%) subjects, with 7 (25.9%) showing a seizure reduction >75%, and 11 (40.7%) >50%. The most relevant adverse events were somnolence seen in 3 subjects, irritability/agitation in 2 subjects, loss of appetite in 2 subjects, and insomnia in 1 individual. Caregivers reported an improvement in attention and reactivity in 12 subjects (44.4%), in sleep quality in 5 subjects (18.5%), and in motor aspects in 3 patients (11.1%). SIGNIFICANCE: CBD resulted effective in reducing seizure frequency in 66.6% of the study sample, regardless of the pathogenic variant; side effects were mild, and caregivers reported an improvement in behavioral and motor features. PLAIN LANGUAGE SUMMARY: This study explored the use of highly purified Cannabidiol (CBD, Epidiolex®) as an add-on therapy for individuals with drug-resistant epilepsy due to Rett Syndrome (RTT) or CDKL5 Deficiency Disorder (CDD). Twenty-seven participants received CBD alongside their usual ASMs. After a median treatment duration of 14 months, 66.6% experienced fewer seizures, with some showing over 75% reduction. Side effects were generally mild, mainly sleepiness or irritability. Notably, caregivers reported improvements in attention, responsiveness, sleep, and motor function. While results were not statistically significant, they suggest CBD may benefit seizure control and quality of life in RTT and CDD patients.

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